Hvelplund Carolina, Jeppesen Eva Mosfeldt, Mortensen Henrik B, Christiansen Peter
Børneafdeling L, Glostrup Hospital, DK-2600 Glostrup.
Ugeskr Laeger. 2009 Mar 2;171(10):818.
Gitelman's syndrome is a rare autosomal recessive syndrome presenting with hypocalciuria, hypomagnesiemia and hypokalemic metabolic alkalosis. This case reports a patient admitted with generalized seizures with the above-mentioned biochemical abnormalities, thus representing a rare onset of Gitelman's syndrome which - to our knowledge - has not been described previously. The patient had a homozygote deletion of the CLC-KB gene, CLCNKB. The case was successfully treated by correcting hypokalemia and hypomagnesiemia with supplemental potassium and magnesium.
吉特曼综合征是一种罕见的常染色体隐性综合征,表现为低钙尿症、低镁血症和低钾性代谢性碱中毒。本病例报告了一名因全身性癫痫发作入院的患者,伴有上述生化异常,这代表了吉特曼综合征一种罕见的发病情况——据我们所知——此前尚未有过描述。该患者存在CLC - KB基因(CLCNKB)的纯合缺失。通过补充钾和镁纠正低钾血症和低镁血症后,该病例得到了成功治疗。